title: Kyphomelic dysplasia in two sib fetuses.
abstract: We present the in utero appearances and postmortem radiographic findings of two sib fetuses, a male and a female, with features suggestive of kyphomelic dysplasia. The fetuses had severe bowing of the long bones, short, flared ribs, platyspondyly, metaphyseal flaring, skin dimpling, with normal external genitalia and karyotypes and a normal pregnancy. They were born to a mother with features of brachydactyly type E. Prenatal ultrasonography of each case showed a normal amount of amniotic fluid, a normal brain, a normal biparietal diameter, symmetrical bowing and shortening of the long bones, and a narrow thorax. Our cases provide support for a familial mode of inheritance for both sexes in kyphomelic dysplasia. Prenatal ultrasound examination can be offered in subsequent pregnancies.
authors.affiliation: Department of Obstetrics and Gynaecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
authors.forename: C P
authors.initials: CP
authors.lastname: Chen
authors.forename: S R
authors.initials: SR
authors.lastname: Chern
authors.forename: S L
authors.initials: SL
authors.lastname: Shih
authors.forename: C Y
authors.initials: CY
authors.lastname: Chuang
authors.forename: F Y
authors.initials: FY
authors.lastname: Huang
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D008297:Male; D011247:Pregnancy; D011859:Radiography; D012868:Skin Abnormalities; D013577:Syndrome; D016216:Ultrasonography, Prenatal